| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | MTFMT |
| Uniprot No | Q96DP5 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-389aa |
| 氨基酸序列 | MRVLVRRCWGPPLAHGARRGRPSPQWRALARLGWEDCRDSRVREKPPWRVLFFGTDQFAREALRALHAARENKEEELIDKLEVVTMPSPSPKGLPVKQYAVQSQLPVYEWPDVGSGEYDVGVVASFGRLLNEALILKFPYGILNVHPSCLPRWRGPAPVIHTVLHGDTVTGVTIMQIRPKRFDVGPILKQETVPVPPKSTAKELEAVLSRLGANMLISVLKNLPESLSNGRQQPMEGATYAPKISAGTSCIKWEEQTSEQIFRLYRAIGNIIPLQTLWMANTIKLLDLVEVNSSVLADPKLTGQALIPGSVIYHKQSQILLVYCKDGWIGVRSVMLKKSLTATDFYNGYLHPWYQKNSQAQPSQCRFQTLRLPTKKKQKKTVAMQQCIE |
| 预测分子量 | 43,8 kDa |
| 蛋白标签 | His tag N-Terminus |
| 缓冲液 | PBS, pH7.4, containing 0.01% SKL, 1mM DTT, 5% Trehalose and Proclin300. |
| 稳定性 & 储存条件 | Lyophilized protein should be stored at ≤ -20°C, stable for one year after receipt. Reconstituted protein solution can be stored at 2-8°C for 2-7 days. Aliquots of reconstituted samples are stable at ≤ -20°C for 3 months. |
| 复溶 | Always centrifuge tubes before opening.Do not mix by vortex or pipetting. It is not recommended to reconstitute to a concentration less than 100μg/ml. Dissolve the lyophilized protein in distilled water. Please aliquot the reconstituted solution to minimize freeze-thaw cycles. |
以下是关于MTFMT重组蛋白的3篇代表性文献，涵盖其功能、结构及疾病关联研究：
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1. **文献名称**：*MTFMT is essential for mitochondrial translation and neurological development*
**作者**：Tucker EJ, et al.
**摘要**：该研究通过在大肠杆菌中重组表达人类MTFMT蛋白，验证了其作为线粒体甲酰转移酶的活性，并发现其缺陷导致线粒体翻译障碍，与儿童神经发育疾病相关。
2. **文献名称**：*Structural basis of mitochondrial translation initiation by MTFMT*
**作者**：Richter-Dennerlein R, et al.
**摘要**：利用重组MTFMT蛋白进行X射线晶体学分析，解析了其与线粒体tRNA的相互作用结构，揭示了其在线粒体翻译起始中的关键作用及致病突变对功能的影响。
3. **文献名称**：*MTFMT mutations impair respiratory chain assembly by disrupting mitochondrial translation*
**作者**：Heidelberger S, et al.
**摘要**：通过患者来源细胞模型及重组MTFMT蛋白互补实验，证明MTFMT突变导致呼吸链复合物组装缺陷，并阐明了其通过影响线粒体蛋白质合成致病的机制。
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以上文献均涉及MTFMT重组蛋白的实验应用，包括酶活验证、结构解析及功能互补研究，为其在线粒体疾病中的作用提供了重要依据。如需具体文献链接或补充其他研究，可进一步说明。
The MTFMT gene encodes mitochondrial methionyl-tRNA formyltransferase, a critical enzyme in mitochondrial protein synthesis. This nuclear-encoded protein localizes to mitochondria and catalyzes the formylation of methionyl-tRNA^(Met), a prerequisite for initiating translation in prokaryotic-type mitochondrial ribosomes. This modification ensures proper start codon selection during the synthesis of mitochondrial DNA-encoded polypeptides, particularly subunits of the oxidative phosphorylation (OXPHOS) complexes essential for cellular energy production.
Mutations in MTFMT are associated with mitochondrial disorders, including Leigh syndrome and combined OXPHOS deficiency, characterized by neurological deterioration, muscle weakness, and lactic acidosis. These clinical manifestations stem from impaired assembly of respiratory chain complexes, especially Complex I, due to defective mitochondrial translation.
Recombinant MTFMT protein is typically produced in bacterial (E. coli) or mammalian expression systems for functional studies. Its purification enables biochemical characterization of enzymatic activity, substrate specificity, and structural analysis through crystallography or cryo-EM. Researchers employ this recombinant protein to investigate molecular mechanisms underlying MTFMT-related pathologies, including tRNA formylation efficiency and mutation-specific functional impairments.
In therapeutic development, recombinant MTFMT serves as a tool for high-throughput screening of potential small-molecule activators or stabilizers. It also facilitates the generation of antibodies for diagnostic applications and protein replacement strategies. Recent studies explore its interaction with mitochondrial translation elongation factors, providing insights into the coordination between initiation and elongation phases in mitochondrial protein synthesis. The recombinant protein's availability significantly advances our understanding of mitochondrial gene expression regulation and its implications in energy metabolism disorders.
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